| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2021-05-01 |
| タイトル |
|
|
タイトル |
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
主題 |
GNB2 |
| キーワード |
|
|
主題 |
global developmental delay |
| キーワード |
|
|
主題 |
whole-exome sequencing |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 著者 |
Fukuda, Tokiko
Hiraide, Takuya
Yamoto, Kaori
Nakashima, Mitsuko
Kawai, Tomoko
Yanagi, Kumiko
Ogata, Tsutomu
Saitsu, Hirotomo
|
| 書誌情報 |
European Journal of Medical Genetics
巻 63,
号 4,
p. 103804,
発行日 2020-04
|
| 出版者 |
|
|
出版者 |
Elsevier |
| 権利 |
|
|
権利情報 |
Copyright 2019. This manuscript version is made available under the CC-BY-NC-ND 4.0 license https://creativecommons.org/licenses/by-nc-nd/4.0/. |
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Heterotrimeric G proteins are composed of α, β, and γ subunits and are involved in integrating signals between receptors and effector proteins. The 5 human Gβ proteins (encoded by GNB1, GNB2, GNB3, GNB4, and GNB5) are highly similar. Variants in GNB1 were identified as a genetic cause of developmental delay. De novo variant in GNB2 has recently been reported as a cause of sinus node dysfunction and atrioventricular block but not as a cause of developmental delay. Trio-based whole-exome sequencing was performed on an individual with global developmental delay, muscle hypotonia, multiple congenital joint contractures and dysmorphism such as brachycephalus, thick eyebrows, thin upper lip, micrognathia, prominent chin, and bilateral tapered fingers. We identified a de novo GNB2 variant c.229G>A, p.(Gly77Arg). Notably, pathogenic substitutions of the homologous Gly77 residue including an identical variant (p.Gly77Arg, p.Gly77Val, p.Gly77Ser, p.Gly77Ala) of GNB1, a paralog of GNB2, was reported in individuals with global developmental delay and hypotonia. Clinical features of our case overlap with those of GNB1 variants. Our study suggests that a GNB2 variant may be associated with syndromic global developmental delay. |
| ISSN |
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収録物識別子タイプ |
ISSN |
|
収録物識別子 |
1769-7212 |
| EISSN |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
1878-0849 |
| PubMed番号 |
|
|
関連タイプ |
isVersionOf |
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|
識別子タイプ |
PMID |
|
|
関連識別子 |
31698099 |
| 出版社DOI |
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|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
10.1016/j.ejmg.2019.103804 |
| 著者版フラグ |
|
|
出版タイプ |
AM |
|
出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
EJMG-63-103804.pdf (1.0 MB)
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